Incidental Mutation 'IGL02029:March3'
ID184305
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol March3
Ensembl Gene ENSMUSG00000032656
Gene Namemembrane-associated ring finger (C3HC4) 3
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02029
Quality Score
Status
Chromosome18
Chromosomal Location56761716-56925548 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 56807681 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 126 (P126S)
Ref Sequence ENSEMBL: ENSMUSP00000047946 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035278] [ENSMUST00000102912]
Predicted Effect probably benign
Transcript: ENSMUST00000035278
AA Change: P126S

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000047946
Gene: ENSMUSG00000032656
AA Change: P126S

DomainStartEndE-ValueType
RINGv 70 117 1.02e-19 SMART
transmembrane domain 145 167 N/A INTRINSIC
transmembrane domain 182 204 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102912
AA Change: P126S

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000099976
Gene: ENSMUSG00000032656
AA Change: P126S

DomainStartEndE-ValueType
RINGv 70 117 1.02e-19 SMART
transmembrane domain 145 167 N/A INTRINSIC
transmembrane domain 182 201 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153044
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the membrane-associated RING-CH (MARCH) family. The encoded protein is an E3 ubiquitin-protein ligase that may be involved in regulation of the endosomal transport pathway. [provided by RefSeq, Mar 2013]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap2 T C 10: 127,080,283 V221A unknown Het
Akr1c13 T A 13: 4,205,362 Y317* probably null Het
Bicd2 T A 13: 49,369,499 I30N probably damaging Het
Cadm2 G T 16: 66,747,296 N291K probably damaging Het
Ccdc61 C T 7: 18,903,498 C68Y probably damaging Het
Ccnl2 A G 4: 155,821,862 S351G probably benign Het
Cdcp1 A G 9: 123,183,834 probably benign Het
Clhc1 T C 11: 29,560,798 S256P probably benign Het
Fam83h T C 15: 76,006,438 E37G probably damaging Het
Fancd2 C T 6: 113,570,975 L938F probably benign Het
Fbn2 G T 18: 58,209,603 A68E probably benign Het
Fcrl1 T A 3: 87,376,487 probably benign Het
Ganc A G 2: 120,459,857 T892A probably benign Het
Gramd1a C T 7: 31,132,824 R596H possibly damaging Het
Limk1 A T 5: 134,657,954 Y518* probably null Het
Map1a A G 2: 121,303,298 T1294A possibly damaging Het
Ntn5 A G 7: 45,686,591 I149V probably benign Het
Nup43 T C 10: 7,667,583 F8L possibly damaging Het
Olfr1105 A G 2: 87,033,901 F107L probably benign Het
Olfr1484 A T 19: 13,586,104 M267L probably benign Het
P2rx6 C T 16: 17,568,095 S236F probably benign Het
Peg10 G T 6: 4,754,473 probably benign Het
Runx2 T A 17: 44,658,687 R238* probably null Het
Serpinb9d A T 13: 33,196,529 I133L possibly damaging Het
Snph A G 2: 151,593,607 V434A probably damaging Het
Trp53rkb C A 2: 166,795,394 P90Q probably damaging Het
Ttn C A 2: 76,749,804 E21836* probably null Het
Ube3c T A 5: 29,619,328 F507I probably damaging Het
Ugt1a6a T C 1: 88,138,681 S70P probably benign Het
Zcchc6 A G 13: 59,784,888 probably benign Het
Zfp354b C T 11: 50,923,837 C87Y probably benign Het
Zfp462 G T 4: 55,079,395 probably benign Het
Other mutations in March3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0625:March3 UTSW 18 56811830 critical splice donor site probably null
R0990:March3 UTSW 18 56807798 missense probably damaging 1.00
R1353:March3 UTSW 18 56776105 intron probably null
R1653:March3 UTSW 18 56811895 missense probably benign 0.00
R2072:March3 UTSW 18 56811853 missense possibly damaging 0.88
R4746:March3 UTSW 18 56776072 missense probably damaging 1.00
R4771:March3 UTSW 18 56783098 missense probably benign 0.19
R6956:March3 UTSW 18 56775981 missense probably benign 0.01
Posted On2014-05-07